What is PKU?
PKU is an inherited genetic condition in which person is born without an enzyme needed to properly break down an amino acid called phenylalanine (phe). Phe is present in all foods that contain protein. Too much phe is harmful because it can affect brain development and cause brain damage.
Approximately 1 out of 15,000 babies are born with PKU every year. In the U.S., all newborns are now screened for PKU through a simple blood test. If the initial test is positive, further blood and urine tests are required to confirm diagnosis. In Wisconsin, all newborns have been screened for PKU since 1965.
PKU is a treatable disease. The treatment involves following a diet that is very low in phe along with a special phe-free or low-phe formula. The diet must be followed very strictly and requires close supervision by a registered dietitian and a doctor or nurse practitioner. The goal of the PKU clinic is to provide optimal treatment, prevent complications and preserve the quality of life of our patients. The clinic staff strives to help patients and families understand the condition and adapt to dietary changes that require lifelong nutritional management. By following this special diet, people with PKU can lead normal and healthy lives.
In the state of Wisconsin, the Wisconsin Newborn Screening Grant provides special low-phe and phe-free formulas as well as some special low-protein foods to patients with PKU. Patients must be Wisconsin residents and be managed at one of the 3 PKU clinics in Wisconsin.